Canonical Allele Identifier: CA403137734

Gene: PNPLA6

Linked Data

• MyVariant Identifiers: chr19:g.7625604T>C (hg19) ; chr19:g.7560718T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560718T>C , CM000681.2:g.7560718T>C	GRCh38
NC_000019.9:g.7625604T>C , CM000681.1:g.7625604T>C	GRCh37
NC_000019.8:g.7531604T>C	NCBI36
NG_013374.1:g.31567T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3770T>C MANE Select	ENSP00000473211.1:p.Leu1257Pro
ENST00000221249.10:c.3656T>C	ENSP00000221249.5:p.Leu1219Pro
ENST00000414982.7:c.3800T>C	ENSP00000407509.2:p.Leu1267Pro
ENST00000450331.7:c.3656T>C	ENSP00000394348.2:p.Leu1219Pro
ENST00000545201.6:c.3575T>C	ENSP00000443323.1:p.Leu1192Pro
ENST00000597202.1:n.128T>C
ENST00000599947.1:c.186-296T>C
ENST00000600737.5:c.3770T>C	ENSP00000473211.1:p.Leu1257Pro
NM_001166111.1:c.3800T>C	NP_001159583.1:p.Leu1267Pro
NM_001166112.1:c.3575T>C	NP_001159584.1:p.Leu1192Pro
NM_001166113.1:c.3656T>C	NP_001159585.1:p.Leu1219Pro
NM_001166114.1:c.3770T>C	NP_001159586.1:p.Leu1257Pro
NM_006702.4:c.3656T>C	NP_006693.3:p.Leu1219Pro
NM_001166111.2:c.3800T>C	NP_001159583.1:p.Leu1267Pro
NM_001166114.2:c.3770T>C MANE Select	NP_001159586.1:p.Leu1257Pro
NM_006702.5:c.3656T>C	NP_006693.3:p.Leu1219Pro
NM_001166112.2:c.3575T>C	NP_001159584.1:p.Leu1192Pro